{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16602418",
  "communityStandardTitle": [
    "NM_005631.5(SMO):c.1417G>C (p.Asp473His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=34198",
        "active": true,
        "id": "COSM34198"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362817[alleleid]",
        "alleleId": 362817,
        "preferredName": "NM_005631.5(SMO):c.1417G>C (p.Asp473His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375938",
        "RCV": [
          "RCV000431122",
          "RCV000441195"
        ],
        "variationId": 375938
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.128849189G>C?assembly=hg19",
        "id": "chr7:g.128849189G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.129209348G>C?assembly=hg38",
        "id": "chr7:g.129209348G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17710891",
        "rs": 17710891
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-129209348-G-C?dataset=gnomad_r4",
        "id": "7-129209348-G-C",
        "variant": "7:129209348 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 129209348,
          "referenceAllele": "G",
          "start": 129209347
        }
      ],
      "hgvs": [
        "NC_000007.14:g.129209348G>C",
        "CM000669.2:g.129209348G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 128849189,
          "referenceAllele": "G",
          "start": 128849188
        }
      ],
      "hgvs": [
        "NC_000007.13:g.128849189G>C",
        "CM000669.1:g.128849189G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 128636425,
          "referenceAllele": "G",
          "start": 128636424
        }
      ],
      "hgvs": [
        "NC_000007.12:g.128636425G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25477,
          "referenceAllele": "G",
          "start": 25476
        }
      ],
      "hgvs": [
        "NG_023340.1:g.25477G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25477,
          "referenceAllele": "G",
          "start": 25476
        }
      ],
      "hgvs": [
        "NG_023340.2:g.25477G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706131"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1936,
          "referenceAllele": "G",
          "start": 1935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011119",
      "geneNCBI_id": 6608,
      "geneSymbol": "SMO",
      "hgvs": [
        "ENST00000249373.8:c.1417G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249373.3:p.Asp473His",
        "hgvsWellDefined": "ENSP00000249373.3:p.Asp473His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741402",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249373.8:c.1417G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005631.5:c.1417G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249373.3:p.Asp473His"
          },
          "RefSeq": {
            "hgvs": "NP_005622.1:p.Asp473His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2014,
          "endIntronDirection": "+",
          "endIntronOffset": 497,
          "referenceAllele": "G",
          "start": 2014,
          "startIntronDirection": "+",
          "startIntronOffset": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011119",
      "geneNCBI_id": 6608,
      "geneSymbol": "SMO",
      "hgvs": [
        "ENST00000655644.1:c.*1221+497G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499377.1:n.*1221+497G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1697,
          "referenceAllele": "G",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011119",
      "geneNCBI_id": 6608,
      "geneSymbol": "SMO",
      "hgvs": [
        "ENST00000249373.7:c.1417G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249373.3:p.Asp473His",
        "hgvsWellDefined": "ENSP00000249373.3:p.Asp473His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249616"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 437,
          "endIntronDirection": "+",
          "endIntronOffset": 497,
          "referenceAllele": "G",
          "start": 437,
          "startIntronDirection": "+",
          "startIntronOffset": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011119",
      "geneNCBI_id": 6608,
      "geneSymbol": "SMO",
      "hgvs": [
        "ENST00000462420.2:c.437+497G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384542",
      "coordinates": [
        {
          "allele": "C",
          "end": 1697,
          "referenceAllele": "G",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011119",
      "geneNCBI_id": 6608,
      "geneSymbol": "SMO",
      "hgvs": [
        "NM_005631.4:c.1417G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005622.1:p.Asp473His",
        "hgvsWellDefined": "NP_005622.1:p.Asp473His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030717"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1200,
          "referenceAllele": "G",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011119",
      "geneNCBI_id": 6608,
      "geneSymbol": "SMO",
      "hgvs": [
        "XM_011516522.1:c.1027G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514824.1:p.Asp343His",
        "hgvsWellDefined": "XP_011514824.1:p.Asp343His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1893,
          "referenceAllele": "G",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011119",
      "geneNCBI_id": 6608,
      "geneSymbol": "SMO",
      "hgvs": [
        "XM_024446891.1:c.1027G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302659.1:p.Asp343His",
        "hgvsWellDefined": "XP_024302659.1:p.Asp343His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384542",
      "coordinates": [
        {
          "allele": "C",
          "end": 1936,
          "referenceAllele": "G",
          "start": 1935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011119",
      "geneNCBI_id": 6608,
      "geneSymbol": "SMO",
      "hgvs": [
        "NM_005631.5:c.1417G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005622.1:p.Asp473His",
        "hgvsWellDefined": "NP_005622.1:p.Asp473His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249373.8:c.1417G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005631.5:c.1417G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249373.3:p.Asp473His"
          },
          "RefSeq": {
            "hgvs": "NP_005622.1:p.Asp473His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}